Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The complex relationship between alcohol use and pregnancy involves socioeconomic, biomedical, psychological, and ethical factors. In recent years alcohol abuse on the part of women of childbearing age has been increasing steadily. Currently, a significant segment of the American population is at risk for an alcoholic pregnancy. Discussion includes a review of the literature concerning alcohol and pregnancy and covers the following: the symptomatology of fetal alcohol syndrome; prospective and epidemiologic human studies; animal models; etiology of fetal alcohol syndrome (FAS); maternal aspects of alcoholism and pregnancy and associated risk factors; paternal drinking and the theory of germ cell damage; use of ethanol in obstetrics; prevention of FAS; and questions to be answered in the future. The Fetal Alcohol Study Group of the Research Society of Alcoholism has promulgated a list of minimal criteria that must be met before a diagnosis of fetal alcohol syndrome (FAS) can be made. These criteria include prenatal and postnatal growth retardation and at least 2 of the following characteristic facial features: microcephaly, microopthalmia, and/or short palpebral fissures; and midfacial hypoplasia (defined as absent or rudimentary philtrum, thin vermilion border of upper lip, hypoplastic maxilla). The label "possible FAS" also is recommended if the criteria are not met, but congenital damage due to alcohol still is suspected. Virtually all infants with FAS have very low birth weights for their gestational age, usually at or below the third percentile. Body length and head circumference also are reduced to a similar degree. Mental retardation is the most debilitating and tragic aspect of this syndrome. Hyperactivity, hyperresponsiveness, hyperacusis, hypotonia, and tremulousness also are commonly described in FAS infants. Numerous studies involving large numbers of pregnant women have provided important data concerning the epidemiology and symptomatology of maternal alcohol use. All of these studies have been based on self reported use of alcohol, and the relationship of these reports to actual intake probably varies. Available prospective studies permit the estimation of the incidence of FAS in general and clarify to some extent the magnitude of risks an alcoholic woman has for giving birth to a defective child. Animal studies are very important in the study of alcohol and pregnancy because they provide an opportunity to control for variables that are seldom accounted for in human beings. One can control dosage and timing of ethanol administration, nutritional factors via pair feeding, and environment, and one can consider individual variation through cross strain comparisons.
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PMID:Pregnancy and alcohol. 1233 10

Ion channels are crucial components of cellular excitability and are involved in many neurological diseases. This review focuses on the sodium leak, G protein-coupled receptors (GPCRs)-activated NALCN channel that is predominantly expressed in neurons where it regulates the resting membrane potential and neuronal excitability. NALCN is part of a complex that includes not only GPCRs, but also UNC-79, UNC-80, NLF-1 and src family of Tyrosine kinases (SFKs). There is growing evidence that the NALCN channelosome critically regulates its ion conduction. Both in mammals and invertebrates, animal models revealed an involvement in many processes such as locomotor behaviors, sensitivity to volatile anesthetics, and respiratory rhythms. There is also evidence that alteration in this NALCN channelosome can cause a wide variety of diseases. Indeed, mutations in the NALCN gene were identified in Infantile Neuroaxonal Dystrophy (INAD) patients, as well as in patients with an Autosomal Recessive Syndrome with severe hypotonia, speech impairment, and cognitive delay. Deletions in NALCN gene were also reported in diseases such as 13q syndrome. In addition, genes encoding NALCN, NLF- 1, UNC-79, and UNC-80 proteins may be susceptibility loci for several diseases including bipolar disorder, schizophrenia, Alzheimer's disease, autism, epilepsy, alcoholism, cardiac diseases and cancer. Although the physiological role of the NALCN channelosome is poorly understood, its involvement in human diseases should foster interest for drug development in the near future. Toward this goal, we review here the current knowledge on the NALCN channelosome in physiology and diseases.
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PMID:The sodium leak channel, NALCN, in health and disease. 2490 79